Linked Data
ClinVar Variation Id:
309968
ClinVar RCV Id:
RCV000355294
dbSNP Id:
rs113625101
gnomAD v2:
12-58141787-C-T
gnomAD v3:
12-57748004-C-T
gnomAD v4:
12-57748004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57748004C>T , CM000674.2:g.57748004C>T | GRCh38 |
| NC_000012.11:g.58141787C>T , CM000674.1:g.58141787C>T | GRCh37 |
| NC_000012.10:g.56428054C>T | NCBI36 |
| NG_007484.2:g.9378G>A , LRG_490:g.9378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.*521G>A (CDK4) MANE Select | ENSP00000257904.5:n.*521G>A | |
| ENST00000257910.8:c.*714C>T (TSPAN31) MANE Select | ENSP00000257910.3:n.*714C>T | |
| ENST00000257904.10:c.*521G>A (CDK4) | ENSP00000257904.5:n.*521G>A | |
| ENST00000257910.7:c.*714C>T (TSPAN31) | ENSP00000257910.3:n.*714C>T | |
| ENST00000312990.10:c.*745G>A (CDK4) | ENSP00000316889.6:n.*745G>A | |
| ENST00000546993.5:n.1825C>T (TSPAN31) | ||
| ENST00000547992.5:c.*714C>T (TSPAN31) | ENSP00000448209.1:n.*714C>T | |
| ENST00000550791.1:n.1904C>T (TSPAN31) | ||
| NM_000075.3:c.*521G>A (CDK4) | NP_000066.1:n.*521G>A | |
| NM_005981.3:c.*714C>T (TSPAN31) | NP_005972.1:n.*714C>T | |
| XM_005269074.2:c.*714C>T (TSPAN31) | XP_005269131.2:n.*714C>T | |
| NM_001330168.1:c.*714C>T (TSPAN31) | NP_001317097.1:n.*714C>T | |
| NM_001330169.1:c.*714C>T (TSPAN31) | NP_001317098.1:n.*714C>T | |
| NM_005981.4:c.*714C>T (TSPAN31) | NP_005972.1:n.*714C>T | |
| XM_024449123.1:c.*714C>T (TSPAN31) | XP_024304891.1:n.*714C>T | |
| NM_000075.4:c.*521G>A (CDK4) MANE Select | NP_000066.1:n.*521G>A | |
| NM_005981.5:c.*714C>T (TSPAN31) MANE Select | NP_005972.1:n.*714C>T | |
| NM_001330168.2:c.*714C>T (TSPAN31) | NP_001317097.1:n.*714C>T | |
| NM_001330169.2:c.*714C>T (TSPAN31) | NP_001317098.1:n.*714C>T |